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Objective  Metachromatic leukodystrophy ( MLD ) is an inherited lysosomal disorder due to a deficiency in arylsulfatase A with progressive demyelination and neurological decline. This retrospective  MRI  study investigated the extent of cortical involvement at time of diagnosis, and clinical correlates to both conventional and regional volumetric measures of brain involvement.    Methods  3D‐T1‐weighted  MRI  scans were used to determine cortical thickness and surface‐based cerebral cortical gray matter ( GM ) and cerebral white matter ( WM ) volume ( GMV  and  WMV ),  WM  lesions, thalamus, and cerebellum.  MRI ‐ MLD  severity scores were obtained from  FLAIR  images. Associations between clinical and imaging data were examined using correlation coefficients.    Results  Twenty patients with  MLD  (mean age 13.7 years, range 2–35) and 20 controls (mean age 13.9 years, range 2–40) were included. Compared with control subjects, late‐infantile, and juvenile patients ( n  = 14) had significantly diminished cerebral cortical  GMV  and thalamus volume ( P  < 0.05), but did not differ in  WMV  and cortical thickness. Adult patients ( n  = 6) showed significantly reduced  GMV ,  WMV  and cortical thickness (all  P  < 0.05). Regional analysis showed statistically significant cortical thinning in the cingulate gyrus and most pronounced thinning with age in the frontal lobe of  MLD  patients. Intelligence quotient ( IQ ) correlated with  MRI ‐ MLD  scores ( r  = −0.87,  P  < 0.001).    Interpretation  Significant cerebral cortical  GMV  loss is already present in early stages of  MLD .  IQ  correlates with WM severity scores and lesion volume, but not with volumetric measures. In adult presentations, there is more pronounced global atrophy with  GMV  and  WMV  loss and accelerated cortical thinning, most prominently in the cingulate gyrus and frontal lobes.

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy